Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2007 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2007 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2019
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 2 2007 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2019
dbSNP: rs1064796681
rs1064796681
TP53
1 1.000 0.120 17 7675091 missense variant C/T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs735665
rs735665
GRAMD1B
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.840 1.000 7 2008 2018
dbSNP: rs872071
rs872071
IRF4
13 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.840 1.000 7 2008 2014
dbSNP: rs13397985
rs13397985
SP110 ; SP140
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.830 1.000 6 2008 2014
dbSNP: rs7176508
rs7176508
DRAIC
4 0.851 0.280 15 69726651 intron variant A/G snv 0.67 0.830 1.000 6 2008 2014
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs11083846
rs11083846
PRKD2
3 0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16 0.830 1.000 3 2008 2010
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 < 0.001 1 2008 2008
dbSNP: rs2266690
rs2266690
CCNH
1 1.000 0.120 5 87399457 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs3136687
rs3136687
CCR7
1 1.000 0.120 17 40561644 intron variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs4505265
rs4505265
IL16
1 1.000 0.120 15 81185114 intron variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2012
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2009 2012
dbSNP: rs6449182
rs6449182
CD38
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.020 1.000 2 2009 2012
dbSNP: rs1800561
rs1800561
CD38
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs2228014
rs2228014
CXCR4
14 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs228014
rs228014
ASTN1
1 1.000 0.120 1 177002472 intron variant T/C snv 0.58 0.010 < 0.001 1 2009 2009
dbSNP: rs305061
rs305061 		4 0.851 0.280 16 85942053 intron variant C/A;T snv 0.820 1.000 3 2010 2012
dbSNP: rs757978
rs757978
FARP2
4 0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02 0.820 1.000 3 2010 2013